Matches in Nanopublications for { ?s ?p "[A common mutation in HADHA, c.1528G>C, leads to a single amino acid substitution, p. Glu474Gln, and impairs primarily long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity leading to LCHAD deficiency (LCHADD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP197631.RAeA3yjIU04DHeNhRN9c9eqJPS1u4EJCwAEniFoSJbaYg130_assertion description "[A common mutation in HADHA, c.1528G>C, leads to a single amino acid substitution, p. Glu474Gln, and impairs primarily long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity leading to LCHAD deficiency (LCHADD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP197631.RAeA3yjIU04DHeNhRN9c9eqJPS1u4EJCwAEniFoSJbaYg130_provenance.